A Dc- phenotype encoded by an RHCE-D(5-7/8)-CE hybrid allele

COTORRUELO C; BIONDI C; GARCÍA BORRÁS S; DI MÓNACO R; RACCA A

VOX SANGUINIS

Blackwell Science

Lugar: Londres; Año: 2003 vol. 85 p. 102 - 108

0042-9007

Background and objectives: The Rh system is genetically controlled by the homologous RHD and RHCE  genes that encode the RhD and RhCcEe polypeptides respectively. Deletions, point mutations and rearrangements between both genes are responsible for the great polymorphism of this system. The aim of this work was to analyse the genetic basis of a Dc- phenotype. Materials and methods: DNA samples from the Dc- propositus and family members were obtained from peripheral blood. RHCE intron 4-exon 5 and RH exons 4, 5, 6 and 7 were analysed by PCR-RFLP. Exon 9 was studied by PCR-SSP. The RH locus was further analysed by a PCR designed for a hybrid allele. Results: No RHCE specific fragments were found when analysing exons 5, 6 and 7 of the RH locus from the propositus? DNA while exons 4 and 9 of both RH genes were present. Conclusions: The results obtained indicated that the Dc- phenotype is encoded by a novel RHCE-D(5-7/8)-CE hybrid allele.